ABCMdb

PMID: 12825076

Gomez-Lira M, Bonamini D, Castellani C, Unis L, Cavallini G, Assael BM, Pignatti PF
Mutations in the SPINK1 gene in idiopathic pancreatitis Italian patients.
Eur J Hum Genet. 2003 Jul;11(7):543-6., [PubMed]

Sentences

No. Mutations Sentence Comment

5 ABCC7 p.Leu997Phe The N34S mutation was present in two patients who carried the CFTR-IVS8 5T variant and in one who carried the L997F variant in the CFTR gene. Login to comment 41 ABCC7 p.Leu997Phe Interestingly, the N34S mutation was present in two patients who carried the 5T variant and in one who carried the L997F variant in the CFTR gene (Table 2). Login to comment 46 ABCC7 p.Leu997Phe A high frequency of the L997F mutation of the CFTR gene has been described in our cohort of IP patients8 and it has been postulated that this mutation, together with other CFTR gene mutations, can cause IP as an atypical, monosymptomatic form of CF. Login to comment 47 ABCC7 p.Leu997Phe As with the 5T variant, it can be hypothesized that the L997F mutation combined with a SPINK1 mutation can have a synergistic effect upon the development of IP. Login to comment 52 ABCC7 p.Tyr1092* Ockenga et al,12 revealed double heterozygosity for CFTR Y1092X mutation and SPINK1 R65Q mutation, not only in a patient but also in his unaffected relatives, indicating that other genetic or environmental factors are needed to develop PI. However, the possible relevance of the novel SPINK1 gene mutation R65Q in IP is still unclear. Login to comment